Canonical Allele Identifier: CA9888692

Gene: CD40

Linked Data

• ClinVar Variation Id: 338578
• ClinVar RCV Id: RCV001844131
• dbSNP Id: rs746182207
• ExAC: 20:44757798 C / T
• gnomAD v2: 20-44757798-C-T
• gnomAD v3: 20-46129159-C-T
• gnomAD v4: 20-46129159-C-T
• MyVariant Identifiers: chr20:g.44757798C>T (hg19) ; chr20:g.46129159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129159C>T , CM000682.2:g.46129159C>T	GRCh38
NC_000020.10:g.44757798C>T , CM000682.1:g.44757798C>T	GRCh37
NC_000020.9:g.44191205C>T	NCBI36
NG_007279.1:g.15893C>T , LRG_40:g.15893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1036C>T	ENSP00000512096.1:n.1036C>T
ENST00000695675.1:n.2829C>T
ENST00000372285.8:c.*119C>T MANE Select	ENSP00000361359.3:n.*119C>T
ENST00000372276.7:c.*279C>T	ENSP00000361350.3:n.*279C>T
ENST00000372285.7:c.*119C>T	ENSP00000361359.3:n.*119C>T
ENST00000489304.5:n.1029C>T
ENST00000620709.4:c.*500C>T	ENSP00000484074.1:n.*500C>T
NM_001250.5:c.*119C>T	NP_001241.1:n.*119C>T
NM_001302753.1:c.*279C>T	NP_001289682.1:n.*279C>T
NM_152854.3:c.*279C>T	NP_690593.1:n.*279C>T
NR_126502.1:n.1046C>T
XM_005260617.2:c.*119C>T	XP_005260674.1:n.*119C>T
XM_005260619.2:c.*119C>T	XP_005260676.1:n.*119C>T
NM_001322421.1:c.*119C>T	NP_001309350.1:n.*119C>T
NM_001322422.1:c.*119C>T	NP_001309351.1:n.*119C>T
NM_001362758.1:c.*279C>T	NP_001349687.1:n.*279C>T
NR_136327.1:n.949C>T
XM_005260619.3:c.*119C>T	XP_005260676.1:n.*119C>T
XM_017028135.1:c.*16C>T	XP_016883624.1:n.*16C>T
XM_017028136.1:c.*16C>T	XP_016883625.1:n.*16C>T
NM_001250.6:c.*119C>T MANE Select	NP_001241.1:n.*119C>T
NM_001302753.2:c.*279C>T	NP_001289682.1:n.*279C>T
NM_001322421.2:c.*119C>T	NP_001309350.1:n.*119C>T
NM_001322422.2:c.*119C>T	NP_001309351.1:n.*119C>T
NM_001362758.2:c.*279C>T	NP_001349687.1:n.*279C>T
NM_152854.4:c.*279C>T	NP_690593.1:n.*279C>T
NR_126502.2:n.986C>T
NR_136327.2:n.889C>T